TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.

doi:10.1002/mds.28865

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Article

TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.

Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2022

Tian Wo-Tu, Zhan Fei-Xia, Liu Zhen-Hua, Liu Zhe, Liu Qing, Guo Xia-Nan, Zhou Zai-Wei, Wang Shi-Ge, Liu Xiao-Rong, Jiang Hong, Li Xun-Hua, Zhao Guo-Hua, Li Hai-Yan, Tang Jian-Guang, Bi Guang-Hui, Zhong Ping, Yin Xiao-Meng, Liu Tao-Tao, Ni Rui-Long, Zheng Hao-Ran, Liu Xiao-Li, Qian Xiao-Hang, Wu Jing-Ying, Cao Yu-Wen, Zhang Chao, Liu Shi-Hua, Wu Ying-Ying, Wang Qun-Feng, Xu Ting, Hou Wen-Zhe, Li Zi-Yi, Ke Hui-Yi, Zhu Ze-Yu, Zheng Lan, Wang Tian, Rong Tian-Yi, Wu Li, Zhang Yu, Fang Kan, Wang Zhan-Hang, Zhang Ya-Kun, Zhang Mei, Zhao Yu-Wu, Tang Bei-Sha, Luan Xing-Hua, Huang Xiao-Jun, Cao Li

Abstract excerpt

BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one-third of PKD patients are attributed to proline-rich transmembrane protein 2 (PRRT2) mutations. OBJECTIVE: We aimed to explore the potential causative gene for PKD. METHODS: A cohort of 196 PRRT2-negative PKD probands were enrolled for whole-exome sequencing (WES). Gene Ranking, Identification and...

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PMID: 34820915
DOI: 10.1002/mds.28865

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